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Benchmarking Nanopore Sequencing for CLN2 (TPP1) Mutation Detection: Integrating Rapid Genomics and Orthogonal Validation for Precision Diagnostics.

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Title: Benchmarking Nanopore Sequencing for CLN2 (TPP1) Mutation Detection: Integrating Rapid Genomics and Orthogonal Validation for Precision Diagnostics.
Authors: Teker B; Institute of Health Sciences, Istanbul University, 34452 Fatih, Türkiye., Akan G; Research Center of Experimental Health Sciences, Near East University, 99138 Mersin, Türkiye., Kazan HH; Department of Medical Biology, Gulhane Faculty of Medicine, University of Health Sciences, 06018 Ankara, Türkiye., Özgen Ö; Rare Diseases Research Laboratory, Istanbul Medical Faculty, Istanbul University, 34452 Fatih, Türkiye., Tatonyan S; Institute of Health Sciences, Istanbul University, 34452 Fatih, Türkiye., Balci MC; Rare Diseases Research Laboratory, Istanbul Medical Faculty, Istanbul University, 34452 Fatih, Türkiye.; Division of Nutrition and Metabolism, Department of Pediatrics, Istanbul Medical Faculty, Istanbul University, 34452 Fatih, Türkiye., Karaca M; Rare Diseases Research Laboratory, Istanbul Medical Faculty, Istanbul University, 34452 Fatih, Türkiye.; Division of Nutrition and Metabolism, Department of Pediatrics, Istanbul Medical Faculty, Istanbul University, 34452 Fatih, Türkiye., Kurekci F; Division of Neurology, Department of Pediatrics, Istanbul Medical Faculty, Istanbul University, 34452 Fatih, Türkiye., Yıldız EP; Division of Neurology, Department of Pediatrics, Istanbul Medical Faculty, Istanbul University, 34452 Fatih, Türkiye., Güngor O; Neurology Unit, Department of Pediatrics, Pamukkale University, 20160 Pamukkale, Türkiye., Deniz A; Rare Diseases Research Laboratory, Istanbul Medical Faculty, Istanbul University, 34452 Fatih, Türkiye.; Neurology Unit, Department of Pediatrics, Medical School, Kocaeli University, 41001 Kocaeli, Türkiye., Gedikbasi A; Department of Pediatric Basic Sciences, Institute of Child Health, Istanbul University, 34452 Fatih, Türkiye., Atalar F; Rare Diseases Research Laboratory, Istanbul Medical Faculty, Istanbul University, 34452 Fatih, Türkiye.; Department of Rare Diseases, Institute of Child Health, Istanbul University, 34452 Fatih, Türkiye., Gokcay GF; Rare Diseases Research Laboratory, Istanbul Medical Faculty, Istanbul University, 34452 Fatih, Türkiye.; Division of Nutrition and Metabolism, Department of Pediatrics, Istanbul Medical Faculty, Istanbul University, 34452 Fatih, Türkiye., Poda M; Rare Diseases Research Laboratory, Istanbul Medical Faculty, Istanbul University, 34452 Fatih, Türkiye.; Department of Rare Diseases, Institute of Child Health, Istanbul University, 34452 Fatih, Türkiye.; Department of Genetics, Aziz Sancar Institute of Experimental Medicine, Istanbul University, 34452 Fatih, Türkiye.
Source: International journal of molecular sciences [Int J Mol Sci] 2025 May 23; Vol. 26 (11). Date of Electronic Publication: 2025 May 23.
Publication Type: Journal Article
Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Benchmarking Nanopore Sequencing for CLN2 (TPP1) Mutation Detection: Integrating Rapid Genomics and Orthogonal Validation for Precision Diagnostics.
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  Data: <searchLink fieldCode="AU" term="%22Teker+B%22">Teker B</searchLink>; Institute of Health Sciences, Istanbul University, 34452 Fatih, Türkiye.<br /><searchLink fieldCode="AU" term="%22Akan+G%22">Akan G</searchLink>; Research Center of Experimental Health Sciences, Near East University, 99138 Mersin, Türkiye.<br /><searchLink fieldCode="AU" term="%22Kazan+HH%22">Kazan HH</searchLink>; Department of Medical Biology, Gulhane Faculty of Medicine, University of Health Sciences, 06018 Ankara, Türkiye.<br /><searchLink fieldCode="AU" term="%22Özgen+Ö%22">Özgen Ö</searchLink>; Rare Diseases Research Laboratory, Istanbul Medical Faculty, Istanbul University, 34452 Fatih, Türkiye.<br /><searchLink fieldCode="AU" term="%22Tatonyan+S%22">Tatonyan S</searchLink>; Institute of Health Sciences, Istanbul University, 34452 Fatih, Türkiye.<br /><searchLink fieldCode="AU" term="%22Balci+MC%22">Balci MC</searchLink>; Rare Diseases Research Laboratory, Istanbul Medical Faculty, Istanbul University, 34452 Fatih, Türkiye.; Division of Nutrition and Metabolism, Department of Pediatrics, Istanbul Medical Faculty, Istanbul University, 34452 Fatih, Türkiye.<br /><searchLink fieldCode="AU" term="%22Karaca+M%22">Karaca M</searchLink>; Rare Diseases Research Laboratory, Istanbul Medical Faculty, Istanbul University, 34452 Fatih, Türkiye.; Division of Nutrition and Metabolism, Department of Pediatrics, Istanbul Medical Faculty, Istanbul University, 34452 Fatih, Türkiye.<br /><searchLink fieldCode="AU" term="%22Kurekci+F%22">Kurekci F</searchLink>; Division of Neurology, Department of Pediatrics, Istanbul Medical Faculty, Istanbul University, 34452 Fatih, Türkiye.<br /><searchLink fieldCode="AU" term="%22Yıldız+EP%22">Yıldız EP</searchLink>; Division of Neurology, Department of Pediatrics, Istanbul Medical Faculty, Istanbul University, 34452 Fatih, Türkiye.<br /><searchLink fieldCode="AU" term="%22Güngor+O%22">Güngor O</searchLink>; Neurology Unit, Department of Pediatrics, Pamukkale University, 20160 Pamukkale, Türkiye.<br /><searchLink fieldCode="AU" term="%22Deniz+A%22">Deniz A</searchLink>; Rare Diseases Research Laboratory, Istanbul Medical Faculty, Istanbul University, 34452 Fatih, Türkiye.; Neurology Unit, Department of Pediatrics, Medical School, Kocaeli University, 41001 Kocaeli, Türkiye.<br /><searchLink fieldCode="AU" term="%22Gedikbasi+A%22">Gedikbasi A</searchLink>; Department of Pediatric Basic Sciences, Institute of Child Health, Istanbul University, 34452 Fatih, Türkiye.<br /><searchLink fieldCode="AU" term="%22Atalar+F%22">Atalar F</searchLink>; Rare Diseases Research Laboratory, Istanbul Medical Faculty, Istanbul University, 34452 Fatih, Türkiye.; Department of Rare Diseases, Institute of Child Health, Istanbul University, 34452 Fatih, Türkiye.<br /><searchLink fieldCode="AU" term="%22Gokcay+GF%22">Gokcay GF</searchLink>; Rare Diseases Research Laboratory, Istanbul Medical Faculty, Istanbul University, 34452 Fatih, Türkiye.; Division of Nutrition and Metabolism, Department of Pediatrics, Istanbul Medical Faculty, Istanbul University, 34452 Fatih, Türkiye.<br /><searchLink fieldCode="AU" term="%22Poda+M%22">Poda M</searchLink>; Rare Diseases Research Laboratory, Istanbul Medical Faculty, Istanbul University, 34452 Fatih, Türkiye.; Department of Rare Diseases, Institute of Child Health, Istanbul University, 34452 Fatih, Türkiye.; Department of Genetics, Aziz Sancar Institute of Experimental Medicine, Istanbul University, 34452 Fatih, Türkiye.
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  Data: <searchLink fieldCode="JN" term="%22101092791%22">International journal of molecular sciences</searchLink> [Int J Mol Sci] 2025 May 23; Vol. 26 (11). <i>Date of Electronic Publication: </i>2025 May 23.
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              Text: 2025 May 23
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